Canonical Allele Identifier: CA484981252
Gene: COL4A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.110831679C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110179332C>G , CM000675.2:g.110179332C>G GRCh38
NC_000013.10:g.110831679C>G , CM000675.1:g.110831679C>G GRCh37
NC_000013.9:g.109629680C>G NCBI36
NG_011544.2:g.132818G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375820.10:c.2283G>C MANE Select ENSP00000364979.4:p.Gly761=
ENST00000649738.1:n.2413G>C
ENST00000375820.8:c.2283G>C ENSP00000364979.4:p.Gly761=
NM_001845.5:c.2283G>C NP_001836.3:p.Gly761=
XM_011521048.1:c.2091G>C XP_011519350.1:p.Gly697=
XM_011521048.2:c.2091G>C XP_011519350.1:p.Gly697=
NM_001845.6:c.2283G>C MANE Select NP_001836.3:p.Gly761=
Search 100 bp 5'
Search 100 bp 3'